Haemolytic anaemia and acute liver failure--the initial manifestations of Wilson's disease
Jazyk angličtina Země Německo Médium print
Typ dokumentu kazuistiky, časopisecké články
PubMed
19166126
Knihovny.cz E-zdroje
- MeSH
- akutní selhání jater etiologie MeSH
- hemolytické anemie etiologie MeSH
- hepatolentikulární degenerace komplikace diagnóza chirurgie MeSH
- lidé MeSH
- mladiství MeSH
- transplantace jater MeSH
- Check Tag
- lidé MeSH
- mladiství MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
- kazuistiky MeSH
We describe a case of a 16-year-old girl with Wilson disease, which was initially presented as Coombs-negative haemolytic anaemia and acute liver failure. The diagnosis was based on the findings of low ceruloplasmin serum level and high copper levels both in serum and 24-hour urinary excretion. The patient underwent orthotopic liver transplantation. A DNA-based diagnostic tool confirmed Wilson's disease: the patient was p.H1069Q homozygote. Based on further molecular-genetic examinations in the family, Wilson disease was diagnosed seven days later in one of the patient's asymptomatic brothers. The proband's cousin was confirmed as a carrier of the p.H1069Q mutation (Fig. 1, Ref. 24).
